A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607155



Internal ID6994090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149920063..149924165hg38UCSC Ensembl
chr5:149299626..149303728hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg384103
hg194103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1147e214
Supporting Variantsessv12094741
SamplesHG00113
Known GenesPDE6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607155
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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